Christine Kim Garcia, MD, PhD

Frode-Jensen Professor of Medicine, Pulmonary Division
Columbia University Irving Medical Center

Garcia Laboratory
650 West 168th Street
BB 9-905
New York, NY 10032
Phone: (212) 304-7658

Bio

Christine Kim Garcia, MD, PhD, is the Frode-Jensen Professor of Medicine and Associate Director of the Division of Pulmonary, Allergy and Critical Medicine within the Department of Medicine at Columbia University, College of Physicians and Surgeons.

Dr. Garcia’s research focuses on identifying the genetic underpinnings of adult-onset lung disease. Her laboratory has used whole genome linkage analysis and next generation sequencing to discover rare mutations in several genes (TERT, TERC, SFTPA2, PARN, RTEL1, FLCN) in patients with interstitial lung disease. These discoveries have implicated the telomere and surfactant pathways in the pathogenesis of lung fibrosis. Although patients with mutations in the telomere-related genes can present with many different subtypes of lung fibrosis, a diagnosis Idiopathic Pulmonary Fibrosis (IPF) is the most common. Her laboratory has shown that a large proportion of patients with lung fibrosis have white blood cell (leukocyte) telomere lengths that are shorter than age-matched controls. Leukocyte telomere length is a biomarker that predicts clinical outcomes for patients, including survival, rate of disease progression, rate of rejection following lung transplantation, and adverse events after exposure to immunosuppressive medications. Some patient with an inherited telomerase dysfunction acquire gain-of-function mutations in the TERT promoter that provide a selective growth advantage for somatic cells.

Education and Training

Medical School:
MD, University of Texas Southwestern Medical Center, Dallas, TX
Graduate School:
PhD, University of Texas Southwestern Medical Center, Dallas, TX
Residency:
Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX
Fellowship(s):
Pulmonary and Critical Care Medicine, University of Texas Southwestern Medical Center, Dallas, TX

Selected Honors

  • 2018 –present; Frode-Jensen Professor of Medicine, Department of Medicine, Columbia University, College of Physicians and Surgeons
  • 2019; Co-Chair, NIH/NHLBI Lung Disease Workshop “DNA Damage, Telomeres and Senescence in Lung Aging and Disease” Bethesda, MD
  • 2013-2018; Marnie and Kern Wildenthal President’s Research Council Professorship in Medical Science; University of Texas Southwestern Medical Center
  • 2013 – 2017; National Institutes of Health Infectious Disease, Reproductive Helath and Asthma/Pulmonary Conditions (IRAP) Study section member
  • 2012; American Society for Clinical Investigation elected member
  • 2008; Doris Duke Charitable Foundation Clinical Scientist Development Award
  • 2006; President’s Research Council Distinguished Young Investigator Award; University of Texas Southwestern Medical Center
  • 2004; Charles E. Culpeper Foundation Medical Scholar Award
  • 2003; Parker B. Francis Fellowship Award in Pulmonary Research
  • 1991; Alpha Omega Alpha; Vice President, University of Texas Southwestern Medical Center Chapter, 1995-1996

Research

Contact Information: 

Garcia Laboratory
650 W 168th Street 
BB 9-905
New York, NY 10032
P: 212.304.7658
ckg2116@cumc.columbia.edu

Lab Manager
Lesley Vickers
Email: 
lav2127@cumc.columbia.edu

Assistant
Josephine Melendez
T: (212) 304-7658
F: (212) 305-1966
Email: jm3913@cumc.columbia.edu

Research Interests

Research in the Garcia Laboratory focuses on identifying the genetic underpinnings of adult-onset lung disease. Current projects include:

  • Analyses of whole exome sequencing data of patients with familial pulmonary fibrosis and other adult-onset lung diseases
  • Utility of blood telomere length as a biomarker to inform clinically-relevant outcomes
  • Development and study of mouse models of human genetic mutations
  • Characterization of subclinical lung fibrosis

Selected Publications

  1. Newton CA, Zhang D, Oldham JM, Kozlitina J, Ma S-F, Martinez JF, Raghu G, Noth I and Garcia CK. Telomere Length and Use of Immunosuppressive Medications in Idiopathic Pulmonary Fibrosis. Am. J. Respir Crit Care Med. 2019 Aug 1; 200(3):336-347. PMID: 30566847. Commentary: Am. J. Respir Crit Care Med. 2019 Aug 1; 200(3): 274-275. PMID: 30624965.
  2. Maryoung L, Yue Y, Young A, Newton CA, Barba C, van Oers NSC, Wang RC and Garcia CK. Somatic Promoter Mutations in TERT Counterbalance Germline Loss-of-Function Telomerase Mutations, J Clin Invest. 2017 Mar 1; 127(3): 982-6. PMID: 28192371.
  3. Newton CA, Batra K, Torrealba J, Kozlitina J, Glazer CS, Aravena C, Meyer K, Raghu G, Collard HR and Garcia CK. Telomere-Related Lung Fibrosis is Diagnostically Heterogeneous but Uniformly Progressive, Eur Respir J. 2016 Dec; 48(6): 1710-1720; PMID: 27540018.
  4. Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, and Garcia CK. Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening. Nat Genet. 2015 May; 47(5): 512-7. PMID: 25848748. Commentary: Lancet Respir Med 3: 428 (2015).
  5. Stuart BD, Lee JS, Kozlitina J, Noth I, Devine MS, Glazer CS, Torres F, Kaza V, Girod CE, Jones KD, Elicker BM, Ma S-F, Vij R, Collard HR, Wolters PJ and Garcia CK. Effect of telomere length on survival in idiopathic pulmonary fibrosis: an observational study with independent validation. Lancet Respir Med. 2014 Jul; 2(7): 557-65. PMID: 24948432. Commentary: Lancet Respir Med 2:513-4 (2014) and Lancet Respir Med 2:507 (2014).
  6. Diaz de Leon A, Cronkhite JT, Yilmaz C, Brewington C, Wang R, Xing C, Hsia CCW and Garcia CK. Subclinical Lung Disease, Macrocytosis and Premature Graying in Kindreds with Telomerase (TERT) Mutations. Chest 2011 Sep; 140(3):753-63. PMID: 21349926.
  7. Wang Y, Kuan PJ, Chao X, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK. Genetic defects in surfactant protein A2 associated with pulmonary fibrosis and lung cancer. Am J Hum Genet. 2009 Jan; 84(1):52-9. PubMed PMID: 19100526.
  8. Cronkite JT, Xing C, Raghu G, Chin K, Torres F, Rosenblatt RL, Garcia CK. Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med. 2008 Oct 1; 178(7):729-37. PubMed PMID: 18635888.
  9. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007 May 1; 104(18):7552-7. PubMed PMID: 17460043.
  10. Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated spontaneous pneumothorax in adults. Am J Resp Crit Care Med. 2005 Jul 1; 172(1):39-44. PubMed PMID: 15805188.

View Dr. Garcia's full list of publications from PubMed

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